Objective To evaluate the pathogenic role of a few benign variants and hypomorphic
pathogenic variants in SRD5A2. Design and methods We retrospectively analyzed …

Abstract The 5α-reductase type 2 (5α-RD2) deficiency is one of the most common etiology of
46, XY disorders of sex development and is caused by pathogenic variants in SRD5A2 …

Early diagnosis and optimal management for steroid 5α-reductase type 2 deficiency (5α-
RD2) patients are major challenges for clinicians and mutation analysis for the 5α-reductase …

Abstract Human steroid 5α-reductase 2 (SRD5A2) plays a determinative role in the
masculinization of external genitalia. To date, approximately 114 different mutations of the …

Context Steroid 5α‐reductase type 2 deficiency (5α‐RD 2) is a male‐limited, autosomal
recessive inherited disease. Affected 46, XY individuals usually present with ambiguous …

Androgens are steroid hormones essential for human male and female development.
Steroid reductases 5α (SRD5As) are key enzymes in androgen biosynthesis. Mutations in …

Abstract Objective 5α-Reductase type 2 (5α-RD2) deficiency causes variable degrees of
undervirilization in patients. The correlation between its genotype and phenotype is unclear …

In this study, we investigated the genetics, clinical features, and therapeutic approach of 14
patients with 5α-reductase deficiency in China. Genotyping analysis was performed by direct …

Mutations of the steroid 5α-reductase type 2 (SRD5A2) gene in 46, XY subjects cause
masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. In …

The aim of this study was to assess the prevalence of pathogenic variants in the SRD5A2
gene in children with 46, XY disorders of sex development (DSD) with normal to high serum …